CPNE4[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC126806816, LOC126806817 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	ABTB1, ACAD11 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 2239444	NM_130808.3(CPNE4):c.1670C>T (p.Pro557Leu)	CPNE4 (P557L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261076	NM_130808.3(CPNE4):c.1610G>A (p.Gly537Asp)	CPNE4 (G537D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207260	NM_130808.3(CPNE4):c.1565G>A (p.Ser522Asn)	CPNE4 (S522N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076768	NM_130808.3(CPNE4):c.1563G>C (p.Lys521Asn)	CPNE4 (K521N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620013	NM_130808.3(CPNE4):c.1486G>C (p.Glu496Gln)	CPNE4 (E383Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268528	NM_130808.3(CPNE4):c.1408G>A (p.Val470Met)	CPNE4 (V488M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543389	NM_130808.3(CPNE4):c.1258G>A (p.Val420Ile)	CPNE4 (V307I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322678	NM_130808.3(CPNE4):c.628T>C (p.Phe210Leu)	CPNE4 (F210L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603004	NM_130808.3(CPNE4):c.485A>G (p.Asn162Ser)	CPNE4 (N49S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410801	NM_130808.3(CPNE4):c.458A>G (p.Asn153Ser)	CPNE4 (N153S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320285	NM_130808.3(CPNE4):c.325G>A (p.Asp109Asn)	CPNE4 (D109N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233192	NM_130808.3(CPNE4):c.305A>G (p.His102Arg)	CPNE4 (H102R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313536	NM_130808.3(CPNE4):c.275G>A (p.Arg92Gln)	CPNE4 (R92Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076770	NM_130808.3(CPNE4):c.269G>A (p.Arg90His)	CPNE4 (R90H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076769	NM_130808.3(CPNE4):c.203G>A (p.Arg68His)	CPNE4 (R68H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411853	NM_130808.3(CPNE4):c.31G>A (p.Ala11Thr)	CPNE4 (A11T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076767	NM_130808.3(CPNE4):c.12G>A (p.Met4Ile)	CPNE4 (M4I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076771	NM_130808.3(CPNE4):c.5A>G (p.Lys2Arg)	CPNE4 (K2R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ISY1-RAB43, ITGB5 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 973598	GRCh37/hg19 3q22.1(chr3:131507971-132143591)x3	ACP3, CPNE4 +1 more	Copy number gain	Intellectual disability	GUncertain significance
Select item 814481	GRCh37/hg19 3q22.1(chr3:131649934-131884654)x3	CPNE4	Copy number gain	not provided	GLikely benign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32